{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,9]],"date-time":"2026-04-09T08:39:57Z","timestamp":1775723997446,"version":"3.50.1"},"reference-count":22,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2015,9,1]],"date-time":"2015-09-01T00:00:00Z","timestamp":1441065600000},"content-version":"tdm","delay-in-days":2434,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Hum. Mutat."],"published-print":{"date-parts":[[2009,1]]},"DOI":"10.1002\/humu.20813","type":"journal-article","created":{"date-parts":[[2008,7,29]],"date-time":"2008-07-29T16:13:19Z","timestamp":1217347999000},"page":"56-60","source":"Crossref","is-referenced-by-count":41,"title":["Genetic variation in the urea cycle: a model resource for investigating key candidate genes for common diseases"],"prefix":"10.1155","volume":"30","author":[{"given":"Sabrina","family":"Mitchell","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Clint","family":"Ellingson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thomas","family":"Coyne","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lynn","family":"Hall","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Meaghan","family":"Neill","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Natalie","family":"Christian","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Catherine","family":"Higham","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Steven F.","family":"Dobrowolski","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mendel","family":"Tuchman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marshall","family":"Summar","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"name":"the Urea Cycle Disorder Consortium","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","reference":[{"key":"10.1002\/humu.20813-BIB1","doi-asserted-by":"crossref","first-page":"233","DOI":"10.1159\/000469210","article-title":"Diagnosis of urea cycle disorders","volume":"38","author":"Bachmann","year":"1987","journal-title":"Enzyme"},{"key":"10.1002\/humu.20813-BIB2","doi-asserted-by":"crossref","first-page":"26","DOI":"10.1067\/mpd.2003.mpd0311","article-title":"Effect of cardiopulmonary bypass on urea cycle intermediates and nitric oxide levels after congenital heart surgery","volume":"142","author":"Barr","year":"2003","journal-title":"J Pediatr"},{"key":"10.1002\/humu.20813-BIB3","first-page":"1","article-title":"Hyperammonemia","volume":"14","author":"Batshaw","year":"1984","journal-title":"Curr Probl Pediatr"},{"key":"10.1002\/humu.20813-BIB4","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1080\/21548331.1985.11703159","article-title":"Disorders of the urea cycle","volume":"20","author":"Brusilow","year":"1985","journal-title":"Hosp Pract (Off Ed)"},{"key":"10.1002\/humu.20813-BIB5","doi-asserted-by":"crossref","first-page":"204","DOI":"10.1016\/j.mito.2006.11.001","article-title":"Genetic variation in the mitochondrial enzyme carbamyl-phosphate synthetase I predisposes children to increased pulmonary artery pressure following surgical repair of congenital heart defects: a validated genetic association study","volume":"7","author":"Canter","year":"2007","journal-title":"Mitochondrion"},{"key":"10.1002\/humu.20813-BIB6","doi-asserted-by":"crossref","first-page":"135","DOI":"10.1007\/978-1-4615-1989-8_14","article-title":"N-acetylglutamate synthetase (NAGS) deficiency","volume":"368","author":"Colombo","year":"1994","journal-title":"Adv Exp Med Biol"},{"key":"10.1002\/humu.20813-BIB7","doi-asserted-by":"crossref","first-page":"306","DOI":"10.1002\/humu.20137","article-title":"Validation of dye-binding\/high-resolution thermal denaturation for the identification of mutations in the SLC22A5 gene","volume":"25","author":"Dobrowolski","year":"2005","journal-title":"Hum Mutat"},{"key":"10.1002\/humu.20813-BIB8","doi-asserted-by":"crossref","first-page":"218","DOI":"10.1016\/j.ymgme.2007.03.010","article-title":"Mutations in the phenylalanine hydroxylase gene identified in 95 patients with phenylketonuria using novel systems of mutation scanning and specific genotyping based upon thermal melt profiles","volume":"91","author":"Dobrowolski","year":"2007","journal-title":"Mol Genet Metab"},{"key":"10.1002\/humu.20813-BIB9","doi-asserted-by":"crossref","first-page":"214","DOI":"10.1056\/NEJM199507273330403","article-title":"Reduced expression of endothelial nitric oxide synthase in the lungs of patients with pulmonary hypertension","volume":"333","author":"Giaid","year":"1995","journal-title":"N Engl J Med"},{"key":"10.1002\/humu.20813-BIB10","doi-asserted-by":"crossref","first-page":"8612","DOI":"10.1073\/pnas.87.21.8612","article-title":"The metabolism of L-arginine and its significance for the biosynthesis of endothelium-derived relaxing factor: cultured endothelial cells recycle L-citrulline to L-arginine","volume":"87","author":"Hecker","year":"1990","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1002\/humu.20813-BIB11","doi-asserted-by":"crossref","first-page":"325","DOI":"10.1515\/bchm2.1932.210.1-2.33","article-title":"Untersuchungen uber die harnstoffbildung im tierkorper","volume":"210","author":"Krebs","year":"1932","journal-title":"Hoppe Seylers Z Physiol Chem"},{"key":"10.1002\/humu.20813-BIB12","doi-asserted-by":"crossref","first-page":"119","DOI":"10.1016\/j.jaci.2005.09.026","article-title":"Genetic polymorphisms in arginase I and II and childhood asthma and atopy","volume":"117","author":"Li","year":"2006","journal-title":"J Allergy Clin Immunol"},{"key":"10.1002\/humu.20813-BIB13","doi-asserted-by":"crossref","first-page":"583","DOI":"10.1016\/S1471-4914(02)02437-1","article-title":"Urea-cycle disorders as a paradigm for inborn errors of hepatocyte metabolism","volume":"8","author":"Mian","year":"2002","journal-title":"Trends Mol Med"},{"key":"10.1002\/humu.20813-BIB14","doi-asserted-by":"crossref","first-page":"188","DOI":"10.1203\/PDR.0b013e3180a0324e","article-title":"Carbamoyl phosphate synthetase polymorphisms as a risk factor for necrotizing enterocolitis","volume":"62","author":"Moonen","year":"2007","journal-title":"Pediatr Res"},{"key":"10.1002\/humu.20813-BIB15","doi-asserted-by":"crossref","first-page":"2766","DOI":"10.1073\/pnas.86.8.2766","article-title":"Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms","volume":"86","author":"Orita","year":"1989","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1002\/humu.20813-BIB16","doi-asserted-by":"crossref","first-page":"1832","DOI":"10.1056\/NEJM200106143442404","article-title":"Neonatal pulmonary hypertension-urea-cycle intermediates, nitric oxide production, and carbamoyl-phosphate synthetase function","volume":"344","author":"Pearson","year":"2001","journal-title":"N Engl J Med"},{"key":"10.1002\/humu.20813-BIB17","doi-asserted-by":"crossref","first-page":"58","DOI":"10.1016\/j.jtcvs.2006.02.012","article-title":"Nitric oxide precursors and congenital heart surgery: a randomized controlled trial of oral citrulline","volume":"132","author":"Smith","year":"2006","journal-title":"J Thorac Cardiovasc Surg"},{"key":"10.1002\/humu.20813-BIB18","doi-asserted-by":"crossref","first-page":"S30","DOI":"10.1067\/mpd.2001.111834","article-title":"Current strategies for the management of neonatal urea cycle disorders","volume":"138","author":"Summar","year":"2001","journal-title":"J Pediatr"},{"key":"10.1002\/humu.20813-BIB19","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1016\/S0378-1119(03)00528-6","article-title":"Characterization of genomic structure and polymorphisms in the human carbamyl phosphate 1 synthetase gene","volume":"311","author":"Summar","year":"2003","journal-title":"Gene"},{"key":"10.1002\/humu.20813-BIB20","doi-asserted-by":"crossref","first-page":"186","DOI":"10.1161\/01.HYP.0000112424.06921.52","article-title":"Relationship between carbamoyl-phosphate synthetase genotype and systemic vascular function","volume":"43","author":"Summar","year":"2004","journal-title":"Hypertension"},{"key":"10.1002\/humu.20813-BIB21","doi-asserted-by":"crossref","first-page":"12","DOI":"10.1016\/j.ymgme.2003.11.014","article-title":"Environmentally determined genetic expression: clinical correlates with molecular variants of carbamyl phosphate synthetase I","volume":"81","author":"Summar","year":"2004","journal-title":"Mol Genet Metab"},{"key":"10.1002\/humu.20813-BIB22","doi-asserted-by":"crossref","first-page":"72","DOI":"10.1016\/S0891-5849(02)01178-4","article-title":"Ethnic diversity in a critical gene responsible for glutathione synthesis","volume":"34","author":"Willis","year":"2003","journal-title":"Free Radic Biol Med"}],"container-title":["Human Mutation"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fhumu.20813","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full\/10.1002\/humu.20813","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,12,29]],"date-time":"2022-12-29T11:51:57Z","timestamp":1672314717000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/humu.20813"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,1]]},"references-count":22,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2009,1]]}},"URL":"https:\/\/doi.org\/10.1002\/humu.20813","relation":{},"ISSN":["1059-7794","1098-1004"],"issn-type":[{"value":"1059-7794","type":"print"},{"value":"1098-1004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2009,1]]}}}